While in the general healthcare world, providers typically manage patients using evidence-based guidelines, such guidelines do not yet exist in regards to management of a patient with an increased-risk polygenic risk score. Additionally, even some existing clinical practice guidelines can be unclear on when to recommend screening for individuals in the general population (prostate cancer is an example of this, as current guidelines do not advocate strongly for or against it). Thus, management of patients who have undergone polygenic risk score testing should include consideration of multiple factors such as their PRS results, their family history, data from studies, population-based risk factors, evidence-based guidelines, age, sex, etc.
Because insurance providers tend to only offer coverage of various screens and tests according to guidelines created by large expert bodies (e.g., the National Comprehensive Cancer Network aka NCCN), and such guidelines have yet to be created in regard to polygenic risk scores, there is no guarantee that a patient’s insurance will cover screens/tests ordered as a follow-up to an increased-risk PRS result. Pre-test counseling and follow-up recommendations should involve transparency as well as shared decision-making between patients and their healthcare provider(s).